POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE Whole blood serotonin (5-HT) and C-terminally directed beta-endorphin protein immunoreactivity (C-ter-beta-EP-ir) are known to be elevated in autistic subjects and might be possible markers of genetic liability to autism. 9951562 1999
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE Despite the fact that the nature of the antigen recognized in the plasma of autistic children by the C-terminally directed anti-beta-endorphin serum remains to be characterized, the difference between C- and N-terminally directed beta-endorphin immunoreactivity might suggest an abnormal processing of the pro-opiomelanocortin gene in infantile autism. 7977888 1994
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autism. 24613350 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 AlteredExpression disease BEFREE The objective of this study was to examine the relationships between SIB, pain reactivity, and β-endorphin levels in autism. 29617065 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease CTD_human These results suggest a possible linkage between abnormal plasma chemistries, especially those related to the pro-opiomelanocortin system, and autistic symptoms. 8570775 1995